March 2025 release

Author: allenbaron

DOreports/DO-subClassOf-anonymous.tsv

@@ -145,7 +145,7 @@ DOID:0050160	inhalation anthrax	'has symptom' some 'chest discomfort'|'has sympt
 DOID:0050166	tuberculous salpingitis	'disease has location' some 'fallopian tube'
 DOID:0050174	Kunjin encephalitis	'has material basis in' some 'Kunjin virus'|'has symptom' some confusion|'has symptom' some fever|'has symptom' some headache|'has symptom' some lethargy|'transmitted by' some 'Culex annulirostris'
 DOID:0050175	tick-borne encephalitis	'has material basis in' some 'Tick-borne encephalitis virus'|'has symptom' some 'sensory disturbance'|'has symptom' some confusion|'has symptom' some drowsiness|'has symptom' some paralysis|'transmitted by' some Ixodes
-DOID:0050179	Powassan encephalitis	'has material basis in' some 'Powassan virus'|'has symptom' some 'stiff neck'|'has symptom' some coma|'has symptom' some confusion|'has symptom' some drowsiness|'has symptom' some fever|'has symptom' some headache|'has symptom' some paralysis|'has symptom' some seizure|'has symptom' some tremor|'has symptom' some vomiting
+DOID:0050179	Powassan encephalitis	'has material basis in' some 'Powassan virus'|'has symptom' some 'stiff neck'|'has symptom' some coma|'has symptom' some confusion|'has symptom' some drowsiness|'has symptom' some fever|'has symptom' some headache|'has symptom' some paralysis|'has symptom' some seizure|'has symptom' some tremor|'has symptom' some vomiting|('transmitted by' some Dermacentor) or ('transmitted by' some Ixodes)
 DOID:0050185	erythema multiforme	'has symptom' some 'allergic reaction'
 DOID:0050192	Nipah virus encephalitis	'has symptom' some 'alteration of consciousness'|'has symptom' some coma|'has symptom' some disorientation|'has symptom' some dizziness|'has symptom' some drowsiness
 DOID:0050194	Argentine hemorrhagic fever	'has material basis in' some 'Mammarenavirus juninense'|'has symptom' some 'low white blood cell count'|'has symptom' some fatigue|'has symptom' some fever|'has symptom' some malaise|'has symptom' some thrombocytopenia|'transmitted by' some 'Calomys musculinus'
@@ -508,7 +508,7 @@ DOID:0060041	autism spectrum disorder	'has symptom' some 'repetitive behavior'
 DOID:0060055	popliteal pterygium syndrome	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0060057	gluten allergy	'has symptom' some diarrhea
 DOID:0060058	lymphoma	'disease has location' some 'lymphoid tissue'
-DOID:0060062	familial juvenile hyperuricemic nephropathy	'existence starts during' some 'Young adult onset'
+DOID:0060062	autosomal dominant tubulointerstitial kidney disease	'existence starts during' some 'Adult onset'|'has material basis in' some 'autosomal dominant inheritance'
 DOID:0060063	sideroblastic anemia 1	'has material basis in' some 'X-linked recessive inheritance'
 DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0060068	nonbacterial thrombotic endocarditis	'has symptom' some endocarditis
@@ -1046,6 +1046,22 @@ DOID:0061099	Carpenter syndrome 2	'has material basis in' some 'autosomal recess
 DOID:0061100	autosomal dominant primary microcephaly	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0061101	immunodeficiency 132A	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0061102	hypertrophic cardiomyopathy 27	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061103	retinitis pigmentosa 76	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061104	autosomal dominant retinitis pigmentosa 96	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061105	retinitis pigmentosa 93	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061106	retinitis pigmentosa 91	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061107	retinitis pigmentosa 92	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061108	retinitis pigmentosa 79	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061109	retinitis pigmentosa 98	'has material basis in' some 'Childhood onset'|'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061110	retinitis pigmentosa 97	'has material basis in' some 'Pediatric onset'|'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061111	retinitis pigmentosa 80	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061112	retinitis pigmentosa 95	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061113	retinitis pigmentosa 78	'has material basis in' some 'Young adult onset'|'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061115	Carey-Fineman-Ziter syndrome 1	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061116	Carey-Fineman-Ziter syndrome 2	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061118	autosomal dominant tubulointerstitial kidney disease 2	'existence starts during' some 'Adult onset'
+DOID:0061121	autosomal dominant tubulointerstitial kidney disease 6	'existence starts during' some 'Adult onset'
+DOID:0061122	autosomal dominant tubulointerstitial kidney disease 1	'existence starts during' some 'Adult onset'
 DOID:0070000	3-methylglutaconic aciduria type 8	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0070002	3-methylglutaconic aciduria type 9	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0070013	Seckel syndrome 2	'has material basis in' some 'autosomal recessive inheritance'
@@ -2188,7 +2204,7 @@ DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negat
 DOID:0090014	severe combined immunodeficiency 104	'existence starts during' some 'Infantile onset'|'has material basis in' some 'autosomal recessive inheritance'
 DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0090018	TNF receptor–associated periodic syndrome	'has material basis in' some 'autosomal dominant inheritance'
-DOID:0090019	sitosterolemia 1	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0090019	sitosterolemia	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0090020	split hand-foot malformation	'disease has location' some (foot and hand)
 DOID:0090021	split hand-foot malformation 1	'disease has location' some (foot and hand)|'has material basis in' some 'autosomal dominant inheritance'
 DOID:0090022	split hand-foot malformation 5	'disease has location' some (foot and hand)
@@ -2903,7 +2919,7 @@ DOID:0111074	progressive familial heart block type IA	'has material basis in' so
 DOID:0111075	progressive familial heart block type II	'has material basis in' some 'autosomal dominant inheritance'|'has symptom' some 'sinus bradycardia'
 DOID:0111076	progressive familial heart block type IB	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0111077	congenital nonspherocytic hemolytic anemia 2	'has material basis in' some 'autosomal recessive inheritance'
-DOID:0111078	tibial muscular dystrophy	'disease has location' some tibia|'has material basis in' some 'autosomal dominant inheritance'
+DOID:0111078	tibial muscular dystrophy	'disease has location' some 'tibialis anterior'|'has material basis in' some 'autosomal dominant inheritance'
 DOID:0111080	Fanconi anemia complementation group V	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0111081	Fanconi anemia complementation group T	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0111082	Fanconi anemia complementation group L	'has material basis in' some 'autosomal recessive inheritance'
@@ -2925,7 +2941,7 @@ DOID:0111097	Fanconi anemia complementation group J	'disease has basis in' some
 DOID:0111098	Fanconi anemia complementation group B	'has material basis in' some 'X-linked recessive inheritance'
 DOID:0111099	maturity-onset diabetes of the young type 1	'disease has basis in' some structural_variant
 DOID:0111100	maturity-onset diabetes of the young type 2	'disease has basis in' some structural_variant
-DOID:0111101	maturity-onset diabetes of the young type 5	'disease has basis in' some structural_variant
+DOID:0111101	renal cysts and diabetes syndrome	'disease has basis in' some structural_variant
 DOID:0111102	maturity-onset diabetes of the young type 3	'disease has basis in' some structural_variant
 DOID:0111103	maturity-onset diabetes of the young type 4	'disease has basis in' some structural_variant
 DOID:0111104	maturity-onset diabetes of the young type 6	'disease has basis in' some structural_variant

DOreports/GARDinDO.tsv

@@ -585,6 +585,7 @@ id	label	xrefs
 "DOID:0080177"	"hepatic veno-occlusive disease"	"GARD:13004"
 "DOID:0080188"	"chronic myelomonocytic leukemia"	"GARD:8225"
 "DOID:0080191"	"PTEN hamartoma tumor syndrome"	"GARD:12800"
+"DOID:0080194"	"Carey-Fineman-Ziter syndrome"	"GARD:3889"
 "DOID:0080195"	"Marinesco-Sjogren syndrome"	"GARD:8341"
 "DOID:0080196"	"mandibulofacial dysostosis, Guion-Almeida type"	"GARD:10056"
 "DOID:0080198"	"infantile histiocytoid cardiomyopathy"	"GARD:9511"
@@ -757,7 +758,7 @@ id	label	xrefs
 "DOID:0090015"	"Cenani-Lenz syndactyly syndrome"	"GARD:5084"
 "DOID:0090016"	"chromosome 5q deletion syndrome"	"GARD:10840"
 "DOID:0090018"	"TNF receptor–associated periodic syndrome"	"GARD:8457"
-"DOID:0090019"	"sitosterolemia 1"	"GARD:7653"
+"DOID:0090019"	"sitosterolemia"	"GARD:7653"
 "DOID:0090020"	"split hand-foot malformation"	"GARD:6319"
 "DOID:0090030"	"corticosteroid-binding globulin deficiency"	"GARD:13101"
 "DOID:0090031"	"D-bifunctional protein deficiency"	"GARD:4539"

DOreports/HumanDO.tsv

@@ -81,7 +81,7 @@ id	label	subClassOf
 "DOID:9245"	"Alagille syndrome"	"liver disease"
 "DOID:0050630"	"Aland Island eye disease"	"eye disease"
 "DOID:4252"	"Alexander disease"	"leukodystrophy"
-"DOID:0050308"	"Alkhumra hemorrhagic fever"	"Kyasanur forest disease"
+"DOID:0050308"	"Alkhumra hemorrhagic fever"	"viral infectious disease"
 "DOID:0111555"	"Alkuraya-Kucinskas syndrome"	"syndrome"
 "DOID:0050631"	"Allan-Herndon-Dudley syndrome"	"syndrome"
 "DOID:0080122"	"Alpers-Huttenlocher syndrome"	"mitochondrial DNA depletion syndrome"
@@ -241,6 +241,7 @@ id	label	subClassOf
 "DOID:0050663"	"Bethlem myopathy"	"congenital muscular dystrophy"
 "DOID:0111367"	"Beukes hip dysplasia"	"osteochondrodysplasia"
 "DOID:0050664"	"Bietti crystalline corneoretinal dystrophy"	"retinal degeneration"
+"DOID:0080311"	"Billuart-type X-linked syndromic intellectual developmental disorder"	"syndromic X-linked intellectual disability"
 "DOID:14683"	"Binder syndrome"	"nasal cavity disease"
 "DOID:0050675"	"Birk-Barel syndrome"	"syndrome"
 "DOID:0050676"	"Birt-Hogg-Dube syndrome"	"skin disease"
@@ -333,6 +334,8 @@ id	label	subClassOf
 "DOID:6680"	"Capgras syndrome"	"delusional disorder"
 "DOID:10326"	"Caplan's syndrome"	"pneumoconiosis"
 "DOID:0080194"	"Carey-Fineman-Ziter syndrome"	"syndrome"
+"DOID:0061115"	"Carey-Fineman-Ziter syndrome 1"	"Carey-Fineman-Ziter syndrome"
+"DOID:0061116"	"Carey-Fineman-Ziter syndrome 2"	"Carey-Fineman-Ziter syndrome"
 "DOID:0050471"	"Carney complex"	"syndrome"
 "DOID:0080533"	"Carney-Stratakis syndrome"	"syndrome"
 "DOID:0050876"	"Caroli disease"	"bile duct disease"
@@ -1155,6 +1158,7 @@ id	label	subClassOf
 "DOID:0081437"	"Peroxisome biogenesis disorder 8B"	"peroxisomal biogenesis disorder"
 "DOID:0081438"	"Peroxisome biogenesis disorder 9B"	"peroxisomal biogenesis disorder"
 "DOID:0050857"	"Perrault syndrome"	"syndrome"
+"DOID:0061117"	"Perrault syndrome 2"	"Perrault syndrome"
 "DOID:0080256"	"Perrault syndrome 6"	"Perrault syndrome"
 "DOID:0061073"	"Perrault syndrome 7"	"Perrault syndrome"
 "DOID:0060486"	"Perry syndrome"	"syndrome"
@@ -1533,7 +1537,6 @@ id	label	subClassOf
 "DOID:0060705"	"X-linked lymphoproliferative syndrome 1"	"lymphoproliferative syndrome"
 "DOID:0060706"	"X-linked lymphoproliferative syndrome 2"	"lymphoproliferative syndrome"
 "DOID:0081123"	"X-linked mental retardation Gustavson type"	"syndromic X-linked intellectual disability"
-"DOID:0080311"	"X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance"	"syndromic X-linked intellectual disability"
 "DOID:0080982"	"X-linked mental retardation-hypotonic facies syndrome-1"	"syndromic X-linked intellectual disability"
 "DOID:0050735"	"X-linked monogenic disease"	"monogenic disease"
 "DOID:0112012"	"X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"
@@ -2671,12 +2674,19 @@ id	label	subClassOf
 "DOID:0111518"	"autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5"	"chronic progressive external ophthalmoplegia"
 "DOID:0111519"	"autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6"	"chronic progressive external ophthalmoplegia"
 "DOID:0060855"	"autosomal dominant pseudohypoaldosteronism type 1"	"pseudohypoaldosteronism"
+"DOID:0061104"	"autosomal dominant retinitis pigmentosa 96"	"retinitis pigmentosa"
 "DOID:0111170"	"autosomal dominant sensory ataxia 1"	"hereditary ataxia"
 "DOID:0112130"	"autosomal dominant severe congenital neutropenia"	"severe congenital neutropenia"
 "DOID:0060335"	"autosomal dominant sideroblastic anemia 4"	"sideroblastic anemia"
 "DOID:0112285"	"autosomal dominant spondyloepiphyseal dysplasia tarda"	"spondyloepiphyseal dysplasia tarda"
 "DOID:0111909"	"autosomal dominant thrombophilia due to protein C deficiency"	"protein C deficiency"
 "DOID:0111900"	"autosomal dominant thrombophilia due to protein S deficiency"	"protein S deficiency"
+"DOID:0060062"	"autosomal dominant tubulointerstitial kidney disease"	"kidney disease"
+"DOID:0061122"	"autosomal dominant tubulointerstitial kidney disease 1"	"autosomal dominant tubulointerstitial kidney disease"
+"DOID:0061118"	"autosomal dominant tubulointerstitial kidney disease 2"	"autosomal dominant tubulointerstitial kidney disease"
+"DOID:0061119"	"autosomal dominant tubulointerstitial kidney disease 4"	"autosomal dominant tubulointerstitial kidney disease"
+"DOID:0061120"	"autosomal dominant tubulointerstitial kidney disease 5"	"autosomal dominant tubulointerstitial kidney disease"
+"DOID:0061121"	"autosomal dominant tubulointerstitial kidney disease 6"	"autosomal dominant tubulointerstitial kidney disease"
 "DOID:0111569"	"autosomal dominant vitreoretinochoroidopathy"	"hereditary retinal dystrophy"
 "DOID:0111573"	"autosomal dominant woolly hair"	"familial woolly hair syndrome"
 "DOID:0050739"	"autosomal genetic disease"	"monogenic disease"
@@ -2808,6 +2818,7 @@ id	label	subClassOf
 "DOID:0081235"	"autosomal recessive intellectual developmental disorder 76"	"autosomal recessive intellectual developmental disorder"
 "DOID:0081236"	"autosomal recessive intellectual developmental disorder 77"	"autosomal recessive intellectual developmental disorder"
 "DOID:0060947"	"autosomal recessive intellectual developmental disorder 82"	"autosomal recessive intellectual developmental disorder"
+"DOID:0061114"	"autosomal recessive intellectual developmental disorder 83"	"autosomal recessive intellectual developmental disorder"
 "DOID:0081184"	"autosomal recessive intellectual developmental disorder 9/26"	"autosomal recessive intellectual developmental disorder"
 "DOID:0111149"	"autosomal recessive isolated ectopia lentis 2"	"isolated ectopia lentis"
 "DOID:0110274"	"autosomal recessive limb-girdle muscular dystrophy"	"limb-girdle muscular dystrophy"
@@ -3747,7 +3758,7 @@ id	label	subClassOf
 "DOID:1762"	"cheilitis"	"lip disease"
 "DOID:0060186"	"chemical colitis"	"colitis"
 "DOID:0060506"	"cherry allergy"	"fruit allergy"
-"DOID:1856"	"cherubism"	"skin disease"
+"DOID:1856"	"cherubism"	"bone disease"
 "DOID:6579"	"chest wall bone cancer"	"bone cancer"
 "DOID:10200"	"chest wall lipoma"	"thoracic benign neoplasm"
 "DOID:6758"	"chest wall lymphoma"	"thoracic cancer"
@@ -5671,7 +5682,6 @@ id	label	subClassOf
 "DOID:0090028"	"familial isolated deficiency of vitamin E"	"vitamin metabolic disorder"
 "DOID:0111387"	"familial isolated hypoparathyroidism"	"hypoparathyroidism"
 "DOID:0111566"	"familial isolated trichomegaly"	"eyelid disease"
-"DOID:0060062"	"familial juvenile hyperuricemic nephropathy"	"kidney disease"
 "DOID:0111422"	"familial lipase maturation factor 1 deficiency"	"familial chylomicronemia syndrome"
 "DOID:14118"	"familial lipoprotein lipase deficiency"	"familial chylomicronemia syndrome"
 "DOID:0111545"	"familial male-limited precocious puberty"	"endocrine system disease"
@@ -7705,7 +7715,6 @@ id	label	subClassOf
 "DOID:0111100"	"maturity-onset diabetes of the young type 2"	"maturity-onset diabetes of the young"
 "DOID:0111102"	"maturity-onset diabetes of the young type 3"	"maturity-onset diabetes of the young"
 "DOID:0111103"	"maturity-onset diabetes of the young type 4"	"maturity-onset diabetes of the young"
-"DOID:0111101"	"maturity-onset diabetes of the young type 5"	"maturity-onset diabetes of the young"
 "DOID:0111104"	"maturity-onset diabetes of the young type 6"	"maturity-onset diabetes of the young"
 "DOID:0111106"	"maturity-onset diabetes of the young type 7"	"maturity-onset diabetes of the young"
 "DOID:0111105"	"maturity-onset diabetes of the young type 8"	"maturity-onset diabetes of the young"
@@ -10092,6 +10101,7 @@ id	label	subClassOf
 "DOID:4450"	"renal cell carcinoma"	"renal carcinoma"
 "DOID:0081413"	"renal cell carcinoma with MiT translocations"	"renal cell carcinoma"
 "DOID:0090006"	"renal coloboma syndrome"	"syndrome"
+"DOID:0111101"	"renal cysts and diabetes syndrome"	"autosomal dominant tubulointerstitial kidney disease"
 "DOID:0050855"	"renal fibrosis"	"kidney disease"
 "DOID:9432"	"renal glycosuria"	"renal tubular transport disease"
 "DOID:1073"	"renal hypertension"	"secondary hypertension"
@@ -10248,7 +10258,11 @@ id	label	subClassOf
 "DOID:0110389"	"retinitis pigmentosa 73"	"retinitis pigmentosa"
 "DOID:0110401"	"retinitis pigmentosa 74"	"retinitis pigmentosa"
 "DOID:0110361"	"retinitis pigmentosa 75"	"retinitis pigmentosa"
+"DOID:0061103"	"retinitis pigmentosa 76"	"retinitis pigmentosa"
 "DOID:0080350"	"retinitis pigmentosa 77"	"retinitis pigmentosa"
+"DOID:0061113"	"retinitis pigmentosa 78"	"retinitis pigmentosa"
+"DOID:0061108"	"retinitis pigmentosa 79"	"retinitis pigmentosa"
+"DOID:0061111"	"retinitis pigmentosa 80"	"retinitis pigmentosa"
 "DOID:0080292"	"retinitis pigmentosa 81"	"retinitis pigmentosa"
 "DOID:0112140"	"retinitis pigmentosa 83"	"retinitis pigmentosa"
 "DOID:0112141"	"retinitis pigmentosa 84"	"retinitis pigmentosa"
@@ -10259,6 +10273,12 @@ id	label	subClassOf
 "DOID:0112146"	"retinitis pigmentosa 89"	"retinitis pigmentosa"
 "DOID:0110387"	"retinitis pigmentosa 9"	"retinitis pigmentosa"
 "DOID:0112147"	"retinitis pigmentosa 90"	"retinitis pigmentosa"
+"DOID:0061106"	"retinitis pigmentosa 91"	"retinitis pigmentosa"
+"DOID:0061107"	"retinitis pigmentosa 92"	"retinitis pigmentosa"
+"DOID:0061105"	"retinitis pigmentosa 93"	"retinitis pigmentosa"
+"DOID:0061112"	"retinitis pigmentosa 95"	"retinitis pigmentosa"
+"DOID:0061110"	"retinitis pigmentosa 97"	"retinitis pigmentosa"
+"DOID:0061109"	"retinitis pigmentosa 98"	"retinitis pigmentosa"
 "DOID:0110418"	"retinitis pigmentosa Y-linked"	"retinitis pigmentosa"
 "DOID:0110419"	"retinitis pigmentosa with or without situs inversus"	"retinitis pigmentosa"
 "DOID:0110829"	"retinitis pigmentosa-deafness syndrome"	"Usher syndrome"
@@ -10576,8 +10596,9 @@ id	label	subClassOf
 "DOID:0050824"	"sinoatrial node disease"	"heart conduction disease"
 "DOID:0080799"	"sinonasal undifferentiated carcinoma"	"nasal cavity carcinoma"
 "DOID:0050127"	"sinusitis"	"paranasal sinus disease"
-"DOID:0090019"	"sitosterolemia 1"	"intestinal disease"
-"DOID:0060983"	"sitosterolemia 2"	"intestinal disease"
+"DOID:0090019"	"sitosterolemia"	"intestinal disease"
+"DOID:0070634"	"sitosterolemia 1"	"sitosterolemia"
+"DOID:0060983"	"sitosterolemia 2"	"sitosterolemia"
 "DOID:4043"	"skeletal muscle cancer"	"muscle cancer"
 "DOID:4044"	"skeletal muscle neoplasm"	"muscle benign neoplasm"
 "DOID:1639"	"skeletal tuberculosis"	"extrapulmonary tuberculosis"